Commentary
Video
Insights into OPMD and Advancements in Genetic Research: Matthew Wicklund, MD
Author(s):
The professor of neurology at the University of Texas Health Science Center San Antonio provided clinical insights on the genetic basis of oculopharyngeal muscular dystrophy, as well as the primary challenges in diagnosing and treating the condition. [WATCH TIME: 5 minutes]
WATCH TIME: 5 minutes
"While we don’t have definitive treatments yet for OPMD, the hope lies in emerging preclinical research and gene therapies that could one day transform how we manage this disease."
Oculopharyngeal muscular dystrophy (OPMD) is a rare, autosomal dominant disorder that causes progressive weakness in muscles controlling eye movement, swallowing, and limb strength. It results from a trinucleotide repeat expansion in the PABPN1 gene, typically presenting in the 40s or 50s with ptosis, dysphagia, and proximal limb weakness. Despite its recognition, OPMD remains underdiagnosed, with treatment mainly focused on symptom management rather than the underlying genetic cause.
At the 2025 Muscular Dystrophy Association (MDA) Clinical & Scientific Conference, held March 16-19, in Dallas, Texas, Matthew Wicklund, MD, a professor of neurology at the University of Texas Health Science Center San Antonio, chaired a session on clinical and preclinical advances in OPMD. The session, part of the “Lab to Life Track,” featured several other prominent clinicians, including Guy Rouleau, PhD; Bernard Brais, MDCM, PhD; Jerel Banks, PhD; and Claudia Cote, PhD.
In his follow-up conversation, Wicklund highlighted promising preclinical research exploring genetic-based therapies, including CRISPR gene editing and RNA silencing techniques. These approaches aim to either repair the mutated gene or prevent the production of the abnormal protein responsible for OPMD. Although these therapies are still in the early stages, they offer hope for more effective treatments in the future. In addition, Wicklund discussed the challenges clinicians face in diagnosing OPMD, noting that due to its late onset and symptom overlap with other neuromuscular disorders, OPMD can often be mistaken for other conditions. As research continues, he stressed the need for targeted, personalized treatment strategies to address the unique needs of each patient.
